Kallmann Syndrome (KS)

Kallmann syndrome (KS) is an uncommon genetic syndrome Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia along with renal anomalies. Protheragen offers complete preclinical drug and therapy development services for understanding the complex genetic mechanisms of Kallmann syndrome.

Introduction to Kallmann Syndrome

Kallmann syndrome (KS) is an altered genetic disorder which describes the occurrence of hypogonadotropic hypogonadism (HH) and anosmia or hyposmia. This is caused due to lack of gonadotropin releasing hormone (GnRH). The genetic basis of KS is heterogeneous, with numerous mutations disrupting the embryonic development and migration of gnRH neuron- and olfactory neuron-producing cells.

Pathogenesis of Kallmann Syndrome

Kallmann syndrome is due to defective embryonic migration of gonadotropin releasing hormone (GnRH) neurons with impaired olfactory bulb development arising from mutations of ANOS1, FGFR1, and CHD7. These mutations can lead to profound signaling pathways disruption such as FGF and axon guidance leading to hypogonadotropic hypogonadism and anosmia. Other critical mutations can also lead to the defective ureteric critical bud morphogenesis and lead to unilateral renal agenesis and other types of anomalies.

Fig.1 Schematic of SEMA3A, SEMA3E proteins and the positions of mutations found in IGD and related phenotypes. (Cariboni and Balasubramanian, 2021)

Therapeutics Development for Kallmann Syndrome

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen is a comprehensive preclinical service provider dedicated to the discovery and development of novel therapeutics for Kallmann syndrome. Our extensive therapeutic development services incorporate the use of sophisticated disease models that effectively capture important features of this inherited disorder.

Therapeutic Development Platforms for Kallmann Syndrome

• Small Molecule Drug
• Cell Therapy
• Gene Therapy

• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein

Disease Models Development for Kallmann Syndrome

Protheragen offers innovative and comprehensive disease models to advance preclinical research into Kallmann Syndrome. Our platform integrates cell-based models, kidney organoids, and animal models to effectively capture the genetic signatures of Kallmann syndrome, supporting extensive drug discovery and mechanism-based investigations.

Cell-based & Organoid Models

• iPSC-Derived GnRH Neurons
• Olfactory Epithelial Organoids
• CHD7-KO Renal Progenitor Cells
• 3D Hypothalamic Organoids
• Conditional Fgfr1 Knockout Tubuloids

Animal Models

• Anos1^-/- Mice
• Conditional Fgfr1 Knockout Rats
• Chd7^+/- Zebrafish
• Gnrh1-tdTomato Reporter Mice
• PROKR2^G124D Knock-in Mice

Protheragen's integrated preclinical development solutions are specifically designed for research in neuroendocrine and renal developmental disorders. We specialize in disease model development, pharmacokinetics, and drug safety evaluation, enabling us to support your investigation from target validation to IND-enabling studies.

Contact us today to accelerate your Kallmann syndrome research with end-to-end solutions.

References

1. Cariboni, A., and R. Balasubramanian. "Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism: The Role of Semaphorin Signaling on Gnrh Neurons." Handb Clin Neurol 182 (2021): 307-15.
2. Patil, V. A., et al. "Genetic Spectrum of Kallmann Syndrome: Single-Center Experience and Systematic Review." Clin Endocrinol (Oxf) 97.6 (2022): 804-13.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.